Format
Sort by
Items per page

Send to

Choose Destination

Links from Gene

Items: 1 to 20 of 66

1.

[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].

Lin Y, Han M, Zheng Z, Lin W, Yu K, Fu Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):39-42. doi: 10.3760/cma.j.issn.1003-9406.2018.01.008. Chinese.

PMID:
29419857
2.

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

Mosaeilhy A, Mohamed MM, C GPD, El Abd HSA, Gamal R, Zaki OK, Zayed H.

Metab Brain Dis. 2017 Oct;32(5):1417-1426. doi: 10.1007/s11011-017-0006-4. Epub 2017 Apr 7.

PMID:
28389991
3.

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting SW, Muntau AC, Braulke T, Mühlhausen C.

Hum Mol Genet. 2017 Feb 1;26(3):538-551. doi: 10.1093/hmg/ddw411.

PMID:
28062662
4.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK.

Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1.

PMID:
27397597
5.

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

Radha Rama Devi A, Ramesh VA, Nagarajaram HA, Satish SP, Jayanthi U, Lingappa L.

Brain Dev. 2016 Jan;38(1):54-60. doi: 10.1016/j.braindev.2015.05.013. Epub 2015 Jun 10.

PMID:
26071121
6.

[Mutation analysis of GCDH gene in four patients with glutaric academia type I].

Liu Q, Chen Y, Chen W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):187-91. doi: 10.3760/cma.j.issn.1003-9406.2015.02.008. Chinese.

PMID:
25863083
7.

[Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].

Shi X, Ke Z, Zheng A, Xie W, Mo G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):608-11. doi: 10.3760/cma.j.issn.1003-9406.2014.01.015. Chinese.

PMID:
25297592
8.

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A.

Clin Biochem. 2014 Sep;47(13-14):1300-5. doi: 10.1016/j.clinbiochem.2014.06.017. Epub 2014 Jun 25.

PMID:
24973495
9.

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y.

Brain Dev. 2014 Oct;36(9):813-22. doi: 10.1016/j.braindev.2013.11.006. Epub 2013 Dec 9.

PMID:
24332224
10.

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A.

Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003. Epub 2013 Feb 5.

PMID:
23395213
11.

[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].

Wen P-, Wang GB, Liu XH, Chen ZL, Shang Y, Cui D, Song P, Yuan Q, Chen SL, Liao JX, Li CR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):642-7. doi: 10.3760/cma.j.issn.1003-9406.2012.06.004. Chinese.

PMID:
23225040
12.

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E.

J Inherit Metab Dis. 2012 Sep;35(5):787-96. doi: 10.1007/s10545-011-9437-y. Epub 2012 Jan 10.

PMID:
22231382
13.

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C.

Hum Genet. 2012 Mar;131(3):435-42. doi: 10.1007/s00439-011-1086-6. Epub 2011 Sep 13.

PMID:
21912879
14.

[Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].

Chen J, Wang ZX, Zhang JL, Yang YL, Chen J, Huang YN.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):374-8. doi: 10.3760/cma.j.issn.1003-9406.2011.04.003. Chinese.

PMID:
21811973
15.

Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.

van der Watt G, Owen EP, Berman P, Meldau S, Watermeyer N, Olpin SE, Manning NJ, Baumgarten I, Leisegang F, Henderson H.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):178-82. doi: 10.1016/j.ymgme.2010.07.018. Epub 2010 Aug 3.

PMID:
20732827
16.

Glutaric aciduria type 1 in Korea: report of two novel mutations.

Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, Park SS, Lee JS, Chae JH.

J Korean Med Sci. 2010 Jun;25(6):957-60. doi: 10.3346/jkms.2010.25.6.957. Epub 2010 May 24.

17.

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.

Strauss KA, Donnelly P, Wintermark M.

Brain. 2010 Jan;133(Pt 1):76-92. doi: 10.1093/brain/awp297. Epub 2009 Dec 23.

PMID:
20032085
18.

Outcome of three cases of untreated maternal glutaric aciduria type I.

Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L.

Eur J Pediatr. 2008 May;167(5):569-73. Epub 2007 Jul 28.

PMID:
17661081
19.

Kinetic mechanism of glutaryl-CoA dehydrogenase.

Rao KS, Albro M, Dwyer TM, Frerman FE.

Biochemistry. 2006 Dec 26;45(51):15853-61. Epub 2006 Dec 2.

PMID:
17176108
20.

Glutaric aciduria types I and II.

Gordon N.

Brain Dev. 2006 Apr;28(3):136-40. Epub 2005 Dec 20. Review.

PMID:
16368216

Supplemental Content

Support Center